Canonical Allele Identifier: CA942311055

Gene:

Linked Data

• dbSNP Id: rs1866726651
• gnomAD v3: 11-112166665-C-T
• gnomAD v4: 11-112166665-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112166665C>T , CM000673.2:g.112166665C>T	GRCh38
NC_000011.9:g.112037388C>T , CM000673.1:g.112037388C>T	GRCh37
NC_000011.8:g.111542598C>T	NCBI36
NG_028143.1:g.2453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525987.5:n.320-3754C>T
ENST00000531744.5:c.315-3754C>T	ENSP00000456957.1:n.315-3754C>T
ENST00000532699.1:c.315-3754C>T	ENSP00000456434.1:n.315-3754C>T